rs143367518

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(G;G)	0	common in clinvar

Make rs143367518(C;C)

Make rs143367518(C;G)

Reference

GRCh38.p7 38.3/150

Chromosome

5

Position

60918364

Gene	ERCC8, LOC105378991

is a	snp
is	mentioned by
dbSNP	rs143367518
dbSNP (classic)	rs143367518
ClinGen	rs143367518
ebi	rs143367518
HLI	rs143367518
Exac	rs143367518
Gnomad	rs143367518
Varsome	rs143367518
LitVar	rs143367518
Map	rs143367518
PheGenI	rs143367518
Biobank	rs143367518
1000 genomes	rs143367518
hgdp	rs143367518
ensembl	rs143367518
geneview	rs143367518
scholar	rs143367518
google	rs143367518
pharmgkb	rs143367518
gwascentral	rs143367518
openSNP	rs143367518
23andMe	rs143367518
SNPshot	rs143367518
SNPdbe	rs143367518
MSV3d	rs143367518
GWAS Ctlg	rs143367518

Max Magnitude

0

ClinVar
Risk	rs143367518(C;C)
Alt	rs143367518(C;C)
Reference	Rs143367518(G;G)
Significance	Probable-Pathogenic
Disease	Cockayne syndrome type A
Variation	info
Gene	ERCC8
CLNDBN	Cockayne syndrome type A
Reversed	0
HGVS	NC_000005.9:g.60214191G>C
CLNSRC
CLNACC	RCV000412151.1,